AutismKB 2.0

Evidence Details for MTMR6


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Basic Information Top
Gene Symbol:MTMR6 ( - )
Gene Full Name: myotubularin related protein 6
Band: 13q12.13
Quick LinksEntrez ID:9107; OMIM: 603561; Uniprot ID:MTMR6_HUMAN; ENSEMBL ID: ENSG00000139505; HGNC ID: 7453
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MTMR6|9107|nucleotide
ATGGAGCATATCCGGACGACCAAGGTCGAACAAGTAAAATTACTTGACCGATTCAGTACCAGCAACAAGTCATTAACAGGAACACTGTATCTTACGGCTACACAT
CTATTATTTATCGACTCTCATCAAAAAGAAACCTGGATATTACACCACCATATTGCCTCAGTAGAGAAACTTGCTTTGACTACTTCTGGATGCCCCCTTGTGATA
CAGTGCAAGAACTTCAGAACTGTGCATTTCATTGTTCCCAGAGAAAGAGATTGCCATGATATTTACAACTCTTTGCTACAACTGTCAAAACAAGCAAAATATGAA
GATCTCTATGCATTTTCTTATAATCCCAAACAAAATGATTCAGAACGACTACAAGGCTGGCAGCTCATTGATCTCGCTGAGGAATATAAGAGGATGGGAGTGCCA
AACTCACACTGGCAGTTGTCTGATGCCAACCGGGACTACAAGATTTGTGAAACTTACCCCAGAGAACTTTATGTTCCCCGGATAGCAAGCAAACCAATAATTGTT
GGTAGTTCCAAGTTCCGGAGCAAGGGAAGATTCCCAGTTCTTTCCTACTATCATCAAGATAAGGAGGCTGCCATTTGTCGATGTAGTCAGCCACTCTCTGGATTC
AGTGCCAGGTGCCTGGAGGATGAACATTTGCTTCAAGCCATTAGTAAAGCCAATCCAGTCAATCGCTATATGTACGTCATGGATACCAGGCCAAAACTGAATGCA
ATGGCCAACAGAGCAGCTGGAAAAGGTTATGAAAATGAAGACAACTATTCCAATATTAGATTTCAGTTTGTTGGAATTGAAAATATTCATGTCATGAGGTCCAGC
CTTCAGAAATTATTGGAAGTCAATGGCACTAAAGGGCTTTCTGTCAATGATTTCTACTCCGGTTTGGAGAGCTCGGGATGGCTTCGCCATATCAAAGCTGTTATG
GATGCTGCAATCTTCTTGGCCAAAGCAATAACAGTTGAAAATGCAAGTGTGTTGGTGCATTGTTCCGATGGTTGGGATAGGACTTCCCAGGTTTGTTCCCTGGGT
TCTCTTTTATTGGATTCCTACTACAGGACAATCAAAGGATTCATGGTTTTAATAGAAAAGGATTGGATCTCTTTTGGACATAAATTTTCAGAGAGGTGTGGCCAG
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>MTMR6|9107|protein
MEHIRTTKVEQVKLLDRFSTSNKSLTGTLYLTATHLLFIDSHQKETWILHHHIASVEKLALTTSGCPLVIQCKNFRTVHFIVPRERDCHDIYNSLLQLSKQAKYE
DLYAFSYNPKQNDSERLQGWQLIDLAEEYKRMGVPNSHWQLSDANRDYKICETYPRELYVPRIASKPIIVGSSKFRSKGRFPVLSYYHQDKEAAICRCSQPLSGF
SARCLEDEHLLQAISKANPVNRYMYVMDTRPKLNAMANRAAGKGYENEDNYSNIRFQFVGIENIHVMRSSLQKLLEVNGTKGLSVNDFYSGLESSGWLRHIKAVM
DAAIFLAKAITVENASVLVHCSDGWDRTSQVCSLGSLLLDSYYRTIKGFMVLIEKDWISFGHKFSERCGQLDGDPKEVSPVFTQFLECVWHLTEQFPQAFEFSEA
FLLQIHEHIHSCQFGNFLGNCQKEREELKLKEKTYSLWPFLLEDQKKYLNPLYSSESHRFTVLEPNTVSFNFKFWRNMYHQFDRTLHPRQSVFNIIMNMNEQNKQ
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top